Office for People With Developmental Disabilities

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Neuromodulation Laboratory

07/10/12

Giuseppe LaFauci, PhD, Acting Head

[email protected]

The Neuromodulation Laboratory aims at understanding the molecular basis of developmental disorders such as fragile X syndrome and autism. We are designing immunoassays for the detection of fragile X mental retardation protein (FMRP) and the diagnosis of fragile X syndrome, and are studying epigenetic dysregulation in autism.

We are collaborating with IBR’s Monoclonal Antibody Facility and Medical Genetics Laboratory, and the College of Staten Island’s Department of Biology on a study of epigenetic regulation of autism-associated genes by environmental factors. Our hypothesis is that the dysregulation of the genes involved in autism may be caused by epigenetic changes. We are studying the effect of agents such as a) bisphenol A (BPA), a compound present in infant bottles, and food containers), and b) genistein (dietary soy). Epidemiological data suggest that exposure to such agents early in development could play a role in susceptibility to disease.

We are also developing immunoassays for the detection of FMRP, with the aim of elucidating the role played by FMRP in neurons and other cells, and developing direct and reliable assays for the diagnosis of fragile X syndrome. To this end, this laboratory in collaboration with the above-mentioned laboratories has produced a unique array of monoclonal antibodies (mAbs) specific for FMRP. We are using these mAbs to develop an ELISA for detecting FMRP. An mAb is used to capture FMRP (patient blood and various tissues) and a second antibody to detect the protein. We are also developing an immunoassay using Luminex. In the assay, antibody-coated microspheres are used to capture FMRP that is then detected by a second antibody.

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